Advances in molecular epidemiology of diabetic retinopathy: from genomics to gut microbiomics

Diabetic retinopathy (DR) remains a prevalent complication of diabetes mellitus and a leading cause of blindness worldwide. The growing global diabetic population underscores the urgency to deepen our understanding of DR pathogenesis and develop effective prevention strategies. This review synthesizes recent advancements in molecular epidemiology, spanning genomics, epigenomics, transcriptomics, proteomics, metabolomics, and gut microbiomics, elucidating genetic underpinnings, epigenetic modifications, transcriptional alterations, protein biomarkers, metabolic disruptions, and gut microbiota dysbiosis associated with DR. Highlighted are key findings from genome-wide association studies (GWAS), Mendelian randomization (MR) studies, candidate gene association studies, and advancements in epigenetic mechanisms, revealing intricate disease pathways and potential therapeutic targets. Additionally, insights into altered metabolic profiles and gut microbiota compositions in DR underscore their emerging roles in disease progression and complications. Challenges and future directions in molecular epidemiological research are discussed to accelerate the translation of these findings into clinical applications for personalized DR management. The integration of multi-omics research findings may provide novel perspectives for facilitating rapid and accurate disease diagnosis, enabling dynamic disease monitoring, and advancing targeted therapeutic strategies.